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rs1057517335

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517335(A;G)
Make rs1057517335(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7529099
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057517335
dbSNP (old)rs1057517335
ClinGenrs1057517335
ebirs1057517335
HLIrs1057517335
Exacrs1057517335
Gnomadrs1057517335
Varsomers1057517335
Maprs1057517335
PheGenIrs1057517335
Biobankrs1057517335
1000 genomesrs1057517335
hgdprs1057517335
ensemblrs1057517335
gopubmedrs1057517335
geneviewrs1057517335
scholarrs1057517335
googlers1057517335
pharmgkbrs1057517335
gwascentralrs1057517335
openSNPrs1057517335
23andMers1057517335
23andMe allrs1057517335
SNPshotrs1057517335
SNPdbers1057517335
MSV3drs1057517335
GWAS Ctlgrs1057517335
Max Magnitude0
ClinVar
Risk rs1057517335(G;G)
Alt rs1057517335(G;G)
Reference Rs1057517335(A;A)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593985A>G
CLNSRC
CLNACC RCV000412239.1,